De novo and transmitted germline TP53 variation in pediatric osteosarcoma: A report from the Children's Oncology Group

Logan G. Spector; Ian Lock; John A. Lane; Aaron Sarver; Mark Krailo; Rajaram Nagarajan; Nathan Pankratz

De novo and transmitted germline TP53 variation in pediatric osteosarcoma: A report from the Children's Oncology Group

Logan G. Spector, Ian Lock, John A. Lane, Aaron Sarver, Mark Krailo, Rajaram Nagarajan, Nathan Pankratz

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Abstract

Pathogenic germline variation in TP53, usually accompanied by familial Li-Fraumeni syndrome (LFS), is known to underly a small proportion of pediatric osteosarcoma (OS). However, the extent to which de novo mutations and rare but mildly deleterious variation in TP53 are found in the genomes of OS patients is only now coming into focus with next-generation sequencing. We recruited 285 patients with OS diagnosed at

Original language	English (US)
State	Published - 2016

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title = "De novo and transmitted germline TP53 variation in pediatric osteosarcoma: A report from the Children's Oncology Group",

abstract = "Pathogenic germline variation in TP53, usually accompanied by familial Li-Fraumeni syndrome (LFS), is known to underly a small proportion of pediatric osteosarcoma (OS). However, the extent to which de novo mutations and rare but mildly deleterious variation in TP53 are found in the genomes of OS patients is only now coming into focus with next-generation sequencing. We recruited 285 patients with OS diagnosed at ",

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T1 - De novo and transmitted germline TP53 variation in pediatric osteosarcoma: A report from the Children's Oncology Group

AU - Spector, Logan G.

AU - Lock, Ian

AU - Lane, John A.

AU - Sarver, Aaron

AU - Krailo, Mark

AU - Nagarajan, Rajaram

AU - Pankratz, Nathan

PY - 2016

Y1 - 2016

N2 - Pathogenic germline variation in TP53, usually accompanied by familial Li-Fraumeni syndrome (LFS), is known to underly a small proportion of pediatric osteosarcoma (OS). However, the extent to which de novo mutations and rare but mildly deleterious variation in TP53 are found in the genomes of OS patients is only now coming into focus with next-generation sequencing. We recruited 285 patients with OS diagnosed at

AB - Pathogenic germline variation in TP53, usually accompanied by familial Li-Fraumeni syndrome (LFS), is known to underly a small proportion of pediatric osteosarcoma (OS). However, the extent to which de novo mutations and rare but mildly deleterious variation in TP53 are found in the genomes of OS patients is only now coming into focus with next-generation sequencing. We recruited 285 patients with OS diagnosed at

M3 - Paper

ER -

De novo and transmitted germline TP53 variation in pediatric osteosarcoma: A report from the Children's Oncology Group

Abstract

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